{
  "id": 9014,
  "label": "genochondromatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007653",
  "properties": {
    "xrefs": [
      "GARD:0010621",
      "MEDGEN:224887",
      "MESH:C563215",
      "OMIM:137360",
      "SCTID:389264005",
      "UMLS:C1300229",
      "icd11.foundation:1222756922"
    ],
    "synonyms": [
      "genochondromatosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 19239,
      "label": "genochondromatosis type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9014
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016741",
          "MEDGEN:1761731",
          "Orphanet:85197",
          "UMLS:C5438970",
          "icd11.foundation:521879469"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019411"
    },
    {
      "id": 19466,
      "label": "genochondromatosis type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9014
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016820",
          "MEDGEN:1374044",
          "Orphanet:93398",
          "SCTID:725904009",
          "UMLS:C4511481",
          "icd11.foundation:1033432522"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019680"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}